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Case Studies - Genetic Disorders

Genetic diagnosis helps couple make informed reproductive choices

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Highly sensitive assay detects a somatic mutation

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Molecular assay confirms a mutation in the gene that causes Congenital Adrenal Hyperplasia

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Rapid and specific test that detects >99% cases of Prader Willi Syndrome

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The right molecular assay supports clinical suspicion in a case of Silver-Russell Syndrome

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A germline mutation in the VHL gene is responsible for Von-Hippel-Lindau disease

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